PRENATAL DIAGNOSIS Prenat Diagn 2005; 25: 28–30. Published online in Wiley InterScience (www.interscience.wiley.com). DOI: 10.1002/pd.881 SHORT COMMUNICATION Prenatal diagnosis of Aicardi–Gouti` eres syndrome M. Le Garrec 1 , M. Doret 1 , J. C. Pasquier 1 , M. Till 2 , P. Lebon 4 , A. Buenerd 3 , J. Escalon 1 and P. Gaucherand 1 * 1 Department of Gynecology and Obstetrics, Edouard Herriot Hospital, Lyon, France 2 Department of Genetics, Debrousse Hospital, Lyon, France 3 Laboratory of pathological anatomy and cytology, Edouard Herriot Hospital, Lyon, France 4 Laboratory of Virology, Saint Vincent de Paul Hospital, Paris, France Objectives Aicardi–Gouti` eres syndrome is an autosomal recessive neurodegenerative disorder inducing cerebral atrophy, intracerebral calcification and developmental arrest. Diagnosis requires the presence of progressive encephalopathy with clinical onset shortly after birth, typical neuroimaging features associated with a raised blood and cerebrospinal fluid interferon-alpha level. A case of prenatal diagnosis of Aicardi–Gouti` eres syndrome is reported. Methods An MRI performed at 26 gestational weeks showed bilateral calcifications and white matter abnormalities, cerebral anomalies typically described in this disease. The fetal blood analysis revealed an increase in interferon-alpha. Results Therefore, the prenatal diagnosis of Aicardi–Gouti` eres syndrome in this fetus was based on the following facts: the familial background with the affected first child and consanguineous parents, a normal pregnancy and normal fetal growth, cerebral anomalies diagnosed on prenatal ultrasound and cerebral MRI, raised interferon-alpha in the fetal serum and no evidence of any infectious etiology. The autopsy performed postdelivery at 28 1/2 weeks’ gestation confirmed the diagnosis of Aicardi–Gouti` eres syndrome. Conclusion To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. Such a diagnosis may prove useful for families at risk as long as genetic screening is not available. Copyright  2005 John Wiley & Sons, Ltd. KEY WORDS: prenatal diagnosis; Aicardi–Gouti` eres syndrome; encephalopathy; interferon-alpha. INTRODUCTION Aicardi–Gouti` eres syndrome (AGS) is an autosomal recessive encephalopathy, usually diagnosed in the first year of life on the basis of the following symptoms (Lanzi et al., 2002): acquired microcephaly, pyramidal symptoms, spasticity and developmental delay. This dis- order (Tolmie et al., 1995; Aicardi, 2002) is mainly characterized by cerebral atrophy with white matter abnormalities, cerebral calcifications mostly in the basal ganglia and elevated interferon-alpha (INF-alpha) in the blood and cerebrospinal fluid (CSF) in the absence of any infection (Lebon et al., 2002; Taco and Kuijpers, 2002). The prevalence of this extremely rare pathology is unknown. Ever since J. Aicardi and F. Gouti` eres gave the first description of 8 cases in 1984 (Aicardi and Gouti` eres, 1984), 69 cases have been reported and described in the literature, and studies are currently being carried out in order to identify the chromosome location of the genes involved in the syndrome (Crow, 2002; Fischbach, 2002). *Correspondence to: Prof. P. Gaucherand, Hopital Edouard Her- riot, Place d’arsonval 69437, Lyon, Cedex 03, France. E-mail: pascal.gaucherand@chu-lyon.fr This article relates a case of prenatal diagnosis of AGS at 26 weeks’ gestation (WG) for parents who already have a previous child affected by the disease. To the best of our knowledge, this is the first prenatal diagnosis of this syndrome. CASE REPORT The present case involves healthy consangineous par- ents. Their previous affected male child was deliv- ered normally at term, following an uneventful preg- nancy. His birth weight, height and head circumference were 2680 g, 46 cm and 32.5 cm respectively. Signs of encephalopathy appeared during the neonatal period (abnormal movements such as tremulousness, hypotonia followed by global hypertonia...) coinciding with the onset of poor head growth. The cerebral MRI revealed the presence of bilateral calcifications and significant anomalies in the white matter signal (leucodystrophy), especially in the frontal and temporal areas. The serological tests for cytomegalovirus (CMV), her- pes, HIV and enteroviruses revealed no recent infection. There was no evidence of metabolic diseases. Then AGS was suspected. At the age of 14 months, an increased INF-alpha at 9 UI (normal inferior to 2 UI) and the presence Copyright  2005 John Wiley & Sons, Ltd. Received: 2 September 2003 Revised: 16 February 2004 Accepted: 10 March 2004